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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
2000 1
2003 3
2004 3
2006 2
2007 1
2008 3
2009 2
2011 1
2012 2
2014 1
2015 1
2017 1
2018 2
2020 1
2021 3
2023 1
2024 0

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25 results

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Page 1
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: muti c. Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293843 Free PMC article.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: muti c. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A. Sakhi S, et al. Among authors: muti c. Mol Genet Metab Rep. 2021 Jun 2;28:100775. doi: 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34141584 Free PMC article.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Among authors: muti c. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: muti c. J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13. J Bone Miner Metab. 2018. PMID: 29236161
Marfan syndrome and fibrillin disorders.
Le Parc JM, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella PJ. Le Parc JM, et al. Among authors: muti c. Joint Bone Spine. 2000;67(5):401-7. Joint Bone Spine. 2000. PMID: 11143906 Review.
Maternal complication of pregnancy in Marfan syndrome.
Pacini L, Digne F, Boumendil A, Muti C, Detaint D, Boileau C, Jondeau G. Pacini L, et al. Among authors: muti c. Int J Cardiol. 2009 Aug 14;136(2):156-61. doi: 10.1016/j.ijcard.2008.04.035. Epub 2008 Jul 15. Int J Cardiol. 2009. PMID: 18632169
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: muti c. Mol Genet Metab. 2015 Nov;116(3):215-20. doi: 10.1016/j.ymgme.2015.09.010. Epub 2015 Sep 30. Mol Genet Metab. 2015. PMID: 26432670 Free PMC article.
25 results